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dc.contributor.authorDunning, AMen_US
dc.contributor.authorMichailidou, Ken_US
dc.contributor.authorKuchenbaecker, KBen_US
dc.contributor.authorThompson, Den_US
dc.contributor.authorFrench, JDen_US
dc.contributor.authorBeesley, Jen_US
dc.contributor.authorHealey, CSen_US
dc.contributor.authorKar, Sen_US
dc.contributor.authorPooley, KAen_US
dc.contributor.authorLopez-Knowles, Een_US
dc.contributor.authorDicks, Een_US
dc.contributor.authorBarrowdale, Den_US
dc.contributor.authorSinnott-Armstrong, NAen_US
dc.contributor.authorSallari, RCen_US
dc.contributor.authorHillman, KMen_US
dc.contributor.authorKaufmann, Sen_US
dc.contributor.authorSivakumaran, Hen_US
dc.contributor.authorMoradi Marjaneh, Men_US
dc.contributor.authorLee, JSen_US
dc.contributor.authorHills, Men_US
dc.contributor.authorJarosz, Men_US
dc.contributor.authorDrury, Sen_US
dc.contributor.authorCanisius, Sen_US
dc.contributor.authorBolla, MKen_US
dc.contributor.authorDennis, Jen_US
dc.contributor.authorWang, Qen_US
dc.contributor.authorHopper, JLen_US
dc.contributor.authorSouthey, MCen_US
dc.contributor.authorBroeks, Aen_US
dc.contributor.authorSchmidt, MKen_US
dc.contributor.authorLophatananon, Aen_US
dc.contributor.authorMuir, Ken_US
dc.contributor.authorBeckmann, MWen_US
dc.contributor.authorFasching, PAen_US
dc.contributor.authorDos-Santos-Silva, Ien_US
dc.contributor.authorPeto, Jen_US
dc.contributor.authorSawyer, EJen_US
dc.contributor.authorTomlinson, Ien_US
dc.contributor.authorBurwinkel, Ben_US
dc.contributor.authorMarme, Fen_US
dc.contributor.authorGuénel, Pen_US
dc.contributor.authorTruong, Ten_US
dc.contributor.authorBojesen, SEen_US
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dc.contributor.authorGonzález-Neira, Aen_US
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dc.contributor.authorEunjung, Len_US
dc.contributor.authorArndt, Ven_US
dc.contributor.authorBrenner, Hen_US
dc.contributor.authorMeindl, Aen_US
dc.contributor.authorSchmutzler, RKen_US
dc.contributor.authorBrauch, Hen_US
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dc.contributor.authorAittomäki, Ken_US
dc.contributor.authorBlomqvist, Cen_US
dc.contributor.authorIto, Hen_US
dc.contributor.authorMatsuo, Ken_US
dc.contributor.authorBogdanova, Nen_US
dc.contributor.authorDörk, Ten_US
dc.contributor.authorLindblom, Aen_US
dc.contributor.authorMargolin, Sen_US
dc.contributor.authorKosma, VMen_US
dc.contributor.authorMannermaa, Aen_US
dc.contributor.authorTseng, CCen_US
dc.contributor.authorWu, AHen_US
dc.contributor.authorLambrechts, Den_US
dc.contributor.authorWildiers, Hen_US
dc.contributor.authorChang-Claude, Jen_US
dc.contributor.authorRudolph, Aen_US
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dc.contributor.authorGiles, GGen_US
dc.contributor.authorMilne, RLen_US
dc.contributor.authorHaiman, CAen_US
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dc.contributor.authorTeo, SHen_US
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dc.contributor.authorNord, Sen_US
dc.contributor.authorBorresen-Dale, ALen_US
dc.contributor.authorKristensen, Ven_US
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dc.contributor.authorZheng, Wen_US
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dc.contributor.authorCzene, Ken_US
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dc.contributor.authorBlot, Wen_US
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dc.contributor.authorGhoussaini, Men_US
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dc.contributor.authorChoi, JYen_US
dc.contributor.authorKang, Den_US
dc.contributor.authorLee, SCen_US
dc.contributor.authorHartman, Men_US
dc.contributor.authorKabisch, Men_US
dc.contributor.authorTorres, Den_US
dc.contributor.authorJakubowska, Aen_US
dc.contributor.authorLubinski, Jen_US
dc.contributor.authorBrennan, Pen_US
dc.contributor.authorSangrajrang, Sen_US
dc.contributor.authorAmbrosone, CBen_US
dc.contributor.authorToland, AEen_US
dc.contributor.authorShen, CYen_US
dc.contributor.authorWu, PEen_US
dc.contributor.authorOrr, Nen_US
dc.contributor.authorSwerdlow, Aen_US
dc.contributor.authorMcGuffog, Len_US
dc.contributor.authorHealey, Sen_US
dc.contributor.authorLee, Aen_US
dc.contributor.authorKapuscinski, Men_US
dc.contributor.authorJohn, EMen_US
dc.contributor.authorTerry, MBen_US
dc.contributor.authorDaly, MBen_US
dc.contributor.authorGoldgar, DEen_US
dc.contributor.authorBuys, SSen_US
dc.contributor.authorJanavicius, Ren_US
dc.contributor.authorTihomirova, Len_US
dc.contributor.authorTung, Nen_US
dc.contributor.authorDorfling, CMen_US
dc.contributor.authorvan Rensburg, EJen_US
dc.contributor.authorNeuhausen, SLen_US
dc.contributor.authorEjlertsen, Ben_US
dc.contributor.authorHansen, TVen_US
dc.contributor.authorOsorio, Aen_US
dc.contributor.authorBenitez, Jen_US
dc.contributor.authorRando, Ren_US
dc.contributor.authorWeitzel, JNen_US
dc.contributor.authorBonanni, Ben_US
dc.contributor.authorPeissel, Ben_US
dc.contributor.authorManoukian, Sen_US
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dc.contributor.authorOttini, Len_US
dc.contributor.authorKonstantopoulou, Ien_US
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dc.contributor.authorGarber, Jen_US
dc.contributor.authorRashid, MUen_US
dc.contributor.authorFrost, Den_US
dc.contributor.authorIzatt, Len_US
dc.contributor.authorEllis, Sen_US
dc.contributor.authorGodwin, AKen_US
dc.contributor.authorArnold, Nen_US
dc.contributor.authorNiederacher, Den_US
dc.contributor.authorRhiem, Ken_US
dc.contributor.authorBogdanova-Markov, Nen_US
dc.contributor.authorSagne, Cen_US
dc.contributor.authorStoppa-Lyonnet, Den_US
dc.contributor.authorDamiola, Fen_US
dc.contributor.authorSinilnikova, OMen_US
dc.contributor.authorMazoyer, Sen_US
dc.contributor.authorIsaacs, Cen_US
dc.contributor.authorClaes, KBen_US
dc.contributor.authorDe Leeneer, Ken_US
dc.contributor.authorde la Hoya, Men_US
dc.contributor.authorCaldes, Ten_US
dc.contributor.authorNevanlinna, Hen_US
dc.contributor.authorKhan, Sen_US
dc.contributor.authorMensenkamp, ARen_US
dc.contributor.authorHooning, MJen_US
dc.contributor.authorRookus, MAen_US
dc.contributor.authorKwong, Aen_US
dc.contributor.authorOlah, Een_US
dc.contributor.authorDiez, Oen_US
dc.contributor.authorBrunet, Jen_US
dc.contributor.authorPujana, MAen_US
dc.contributor.authorGronwald, Jen_US
dc.contributor.authorHuzarski, Ten_US
dc.contributor.authorBarkardottir, RBen_US
dc.contributor.authorLaframboise, Ren_US
dc.contributor.authorSoucy, Pen_US
dc.contributor.authorMontagna, Men_US
dc.contributor.authorAgata, Sen_US
dc.contributor.authorTeixeira, MRen_US
dc.contributor.authorPark, SKen_US
dc.contributor.authorLindor, Nen_US
dc.contributor.authorCouch, FJen_US
dc.contributor.authorTischkowitz, Men_US
dc.contributor.authorForetova, Len_US
dc.contributor.authorVijai, Jen_US
dc.contributor.authorOffit, Ken_US
dc.contributor.authorSinger, CFen_US
dc.contributor.authorRappaport, Cen_US
dc.contributor.authorPhelan, CMen_US
dc.contributor.authorGreene, MHen_US
dc.contributor.authorMai, PLen_US
dc.contributor.authorRennert, Gen_US
dc.contributor.authorImyanitov, ENen_US
dc.contributor.authorHulick, PJen_US
dc.contributor.authorPhillips, KAen_US
dc.contributor.authorPiedmonte, Men_US
dc.contributor.authorMulligan, AMen_US
dc.contributor.authorGlendon, Gen_US
dc.contributor.authorBojesen, Aen_US
dc.contributor.authorThomassen, Men_US
dc.contributor.authorCaligo, MAen_US
dc.contributor.authorYoon, SYen_US
dc.contributor.authorFriedman, Een_US
dc.contributor.authorLaitman, Yen_US
dc.contributor.authorBorg, Aen_US
dc.contributor.authorvon Wachenfeldt, Aen_US
dc.contributor.authorEhrencrona, Hen_US
dc.contributor.authorRantala, Jen_US
dc.contributor.authorOlopade, OIen_US
dc.contributor.authorGanz, PAen_US
dc.contributor.authorNussbaum, RLen_US
dc.contributor.authorGayther, SAen_US
dc.contributor.authorNathanson, KLen_US
dc.contributor.authorDomchek, SMen_US
dc.contributor.authorArun, BKen_US
dc.contributor.authorMitchell, Gen_US
dc.contributor.authorKarlan, BYen_US
dc.contributor.authorLester, Jen_US
dc.contributor.authorMaskarinec, Gen_US
dc.contributor.authorWoolcott, Cen_US
dc.contributor.authorScott, Cen_US
dc.contributor.authorStone, Jen_US
dc.contributor.authorApicella, Cen_US
dc.contributor.authorTamimi, Ren_US
dc.contributor.authorLuben, Ren_US
dc.contributor.authorKhaw, KTen_US
dc.contributor.authorHelland, Åen_US
dc.contributor.authorHaakensen, Ven_US
dc.contributor.authorDowsett, Men_US
dc.contributor.authorPharoah, PDen_US
dc.contributor.authorSimard, Jen_US
dc.contributor.authorHall, Pen_US
dc.contributor.authorGarcía-Closas, Men_US
dc.contributor.authorVachon, Cen_US
dc.contributor.authorChenevix-Trench, Gen_US
dc.contributor.authorAntoniou, ACen_US
dc.contributor.authorEaston, DFen_US
dc.contributor.authorEdwards, SLen_US
dc.date.accessioned2019-07-05T13:44:05Z
dc.date.issued2016-04en_US
dc.identifier.citationNature genetics, 2016, 48 (4), pp. 374 - 386en_US
dc.identifier.issn1061-4036en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3285
dc.identifier.eissn1546-1718en_US
dc.identifier.doi10.1038/ng.3521en_US
dc.description.abstractWe analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.en_US
dc.formatPrint-Electronicen_US
dc.format.extent374 - 386en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserveden_US
dc.subjectEMBRACEen_US
dc.subjectGEMO Study Collaboratorsen_US
dc.subjectHEBONen_US
dc.subjectkConFab Investigatorsen_US
dc.subjectChromosomes, Human, Pair 6en_US
dc.subjectHumansen_US
dc.subjectBreast Neoplasmsen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectCarrier Proteinsen_US
dc.subjectCell Cycle Proteinsen_US
dc.subjectEstrogen Receptor alphaen_US
dc.subjectRisk Factorsen_US
dc.subjectGene Expressionen_US
dc.subjectGene Expression Regulation, Neoplasticen_US
dc.subjectBase Sequenceen_US
dc.subjectProtein Bindingen_US
dc.subjectPhenotypeen_US
dc.subjectPolymorphism, Single Nucleotideen_US
dc.subjectFemaleen_US
dc.subjectGenetic Association Studiesen_US
dc.titleBreast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.en_US
dc.typeJournal Article
dcterms.dateAccepted2016-02-05en_US
rioxxterms.versionofrecord10.1038/ng.3521en_US
rioxxterms.licenseref.startdate2016-04en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfNature geneticsen_US
pubs.issue4en_US
pubs.notesNot knownen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Endocrinology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Endocrinology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Endocrinology/Endocrinology (hon.)
pubs.volume48en_US
pubs.embargo.termsNot knownen_US
icr.researchteamComplex Trait Geneticsen_US
icr.researchteamAetiological Epidemiologyen_US
icr.researchteamEndocrinologyen_US
dc.contributor.icrauthorOrr, Nicholasen_US
dc.contributor.icrauthorSwerdlow, Anthonyen_US
dc.contributor.icrauthorDowsett, Mitchen_US
dc.contributor.icrauthorLopez Knowles, Elenaen_US


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